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Journal of Indian Association of... 2022Acinar cell carcinoma (ACC) is a rare malignant tumor of the pancreas. A 10-year-old girl presented with a large tumor arising from the pancreatic head. Excision sans...
Acinar cell carcinoma (ACC) is a rare malignant tumor of the pancreas. A 10-year-old girl presented with a large tumor arising from the pancreatic head. Excision sans Whipple's procedure was performed. Histopathology revealed it as ACC. In the context of this case, this rare tumor is being reported to highlight that such tumors arising from the head of the pancreas can be managed successfully without always resorting to a Whipple's procedure.
PubMed: 35733585
DOI: 10.4103/jiaps.JIAPS_29_21 -
Virchows Archiv : An International... Aug 2022Pancreatoblastoma (PB) is a rare tumor of the pancreas. In case of metastases, the treatment options are sparse and targeted approaches are not developed. We here...
Pancreatoblastoma (PB) is a rare tumor of the pancreas. In case of metastases, the treatment options are sparse and targeted approaches are not developed. We here evaluate MCL1 amplification as a putative target in PB.Thirteen samples from adult (10/13) and pediatric patients (3/13) were collected. Three of these samples had been previously subjected to whole-exome sequencing (2 cases) or whole-genome sequencing (1 case) within a precision oncology program (NCT/DKTK MASTER), and this analysis had shown copy number gains of MCL1 gene. We established a fluorescence in situ hybridization (FISH) test to assess the copy number alterations of MCL1 gene in 13 formalin-fixed paraffin-embedded PBs, including the 3 cases assessed by genome sequencing. FISH analysis showed the amplification of MCL1 in 2 cases (both were adult PB), one of which was a case with the highest copy number gain at genomic analysis. In both cases, the average gene copy number per cell was ≥ 5.7 and the MCL1/1p12 ratio was ≥ 2.4. Our data support MCL1 as a putative target in PB. Patients with MCL1-amplified PB might benefit from MCL1 inhibition. Sequencing data is useful to screen for amplification; however, the established FISH for MCL1 can help to determine the level and cellular heterogeneity of MCL1 amplification more accurately.
Topics: Adult; Child; Gene Amplification; Humans; In Situ Hybridization, Fluorescence; Myeloid Cell Leukemia Sequence 1 Protein; Pancreatic Neoplasms
PubMed: 35668118
DOI: 10.1007/s00428-022-03349-w -
Cancer Cytopathology Jul 2022The classification and management of solid pancreatic neoplasms has expanded significantly in recent years because of advances in immunohistochemical markers, molecular... (Review)
Review
The classification and management of solid pancreatic neoplasms has expanded significantly in recent years because of advances in immunohistochemical markers, molecular diagnostics, and therapeutics. Solid pancreatic masses are subdivided into 1) ill-defined, scirrhous, and stroma-rich (ductal adenocarcinoma) and 2) well circumscribed, cellular, and stroma-poor (including neuroendocrine neoplasms, acinar cell carcinoma, pancreatoblastoma, and solid-pseudopapillary neoplasm). Definitive diagnosis, particularly of stroma-poor, circumscribed tumors, requires the incorporation of radiologic and cytologic findings, along with the judicious use of (broad, but limited) immunohistochemical panels (pancytokeratin and neuroendocrine [synaptophysin], acinar [trypsin], and solid-pseudopapillary neoplasm [β-catenin] markers), along with unstained slides. Depending on the initial results, immunohistochemical panels should be expanded to include more confirmatory (acinar and neuroendocrine) markers. This ensures that adequate material is available for definitive diagnosis/subclassification and, in some cases, grading, and/or molecular studies, particularly of grade 3 neuroendocrine neoplasms and mixed-lineage tumors. The objective of this review is to expand the understanding of the cytomorphology of solid pancreatic neoplasms using an integrated, multidisciplinary approach in their diagnosis. Knowledge and understanding of recent updates in the classification of solid pancreatic neoplasms ensures that cytopathologists appropriately triage specimens, judiciously use and interpret ancillary studies, and incorporate these results in reporting.
Topics: Biomarkers, Tumor; Carcinoma, Acinar Cell; Humans; Neuroendocrine Tumors; Pancreatic Neoplasms
PubMed: 35594486
DOI: 10.1002/cncy.22597 -
Pathologica Feb 2022Pediatric solid neoplasms are rare and very different from those observed in adults. The majority of them are referred to as embryonal because they arise as a result of... (Review)
Review
New insights in gastrointestinal "pediatric" neoplasms in adult patients: pancreatoblastoma, hepatoblastoma and embryonal sarcoma of the liver. A practical approach by GIPPI-GIPAD Groups.
Pediatric solid neoplasms are rare and very different from those observed in adults. The majority of them are referred to as embryonal because they arise as a result of alterations in the processes of organogenesis or normal growth and are characterized by proliferation of primitive cells, reproducing the corresponding tissue at various stages of embryonic development. This review will focus on embryonal gastrointestinal pediatric neoplasms in adult patients, including pancreatoblastoma, hepatoblastoma, and embryonal sarcoma of the liver. Although they are classically considered pediatric neoplasms, they may (rarely) occur in adult patients. Hepatoblastoma represents the most frequent liver neoplasm in the pediatric population, followed by hepatocellular carcinoma and embryonal sarcoma of the liver; while pancreatoblastoma is the most common malignant pancreatic tumor in childhood. Both in children and adults, the mainstay of treatment is complete surgical resection, either up front or following neoadjuvant chemotherapy. Unresectable and/or metastatic neoplasms may be amenable to complete delayed surgery after neoadjuvant chemotherapy. However, these neoplasms display a more aggressive behavior and overall poorer prognosis in adults than in children, probably because they are diagnosed in later stages of diseases.
Topics: Child; Female; Hepatoblastoma; Humans; Liver Neoplasms; Pancreatic Neoplasms; Pregnancy; Sarcoma
PubMed: 35212317
DOI: 10.32074/1591-951X-559 -
Translational Oncology Apr 2022The aim of this study is to analyze the clinical and pathological features of pancreatoblastoma (PB) and to obtain better management for patients with relapsed or...
PURPOSE
The aim of this study is to analyze the clinical and pathological features of pancreatoblastoma (PB) and to obtain better management for patients with relapsed or metastatic disease.
METHODS
Four cases treated in our institution and 59 cases reported previously in the literature from the PubMed biomedical database (2000-2020) were reviewed and analyzed.
RESULTS
Four cases with PB presented with abdominal pain and palpable abdominal masses, with the tumor size ranging from 5.2 to 18 cm in diameter. The invasion of the splenic vein and superior mesenteric artery, duodenum, and lymph nodes were risk factors for PB. Three cases were treated with combination therapy and showed favorable outcomes, while one case was treated with chemotherapy alone due to tumor progression and died of the disease. Squamous corpuscles were revealed in the tumor samples and considered a defining component for histological diagnosis.
CONCLUSIONS
Multidisciplinary diagnosis plays an important role in clinical management. The risk factors should be considered in the therapeutic stratification of PB before surgery.
PubMed: 35180620
DOI: 10.1016/j.tranon.2022.101359 -
Modern Pathology : An Official Journal... Jul 2022Pancreatic neoplasms are heterogenous and have traditionally been classified by assessing their lines of cellular differentiation using histopathologic methods,...
Pancreatic neoplasms are heterogenous and have traditionally been classified by assessing their lines of cellular differentiation using histopathologic methods, particularly morphologic and immunohistochemical evaluation. These methods frequently identify overlapping differentiation along ductal, acinar, and neuroendocrine lines, raising diagnostic challenges as well as questions regarding the relationship of these neoplasms. Neoplasms with acinar differentiation, in particular, frequently show more than one line of differentiation based on immunolabeling. Genome methylation signatures, in contrast, are better conserved within cellular lineages, and are increasingly used to support the classification of neoplasms. We characterized the epigenetic relationships between pancreatoblastomas, acinar cell carcinomas (including mixed variants), pancreatic neuroendocrine tumors, solid pseudopapillary neoplasms, and pancreatic ductal adenocarcinomas using a genome-wide array platform. Using unsupervised learning approaches, pancreatic neuroendocrine tumors, solid pseudopapillary neoplasms, ductal adenocarcinomas, and normal pancreatic tissue samples all localized to distinct clusters based on their methylation profiles, whereas all neoplasms with acinar differentiation occupied a broad overlapping region located between the predominantly acinar normal pancreatic tissue and ductal adenocarcinoma clusters. Our data provide evidence to suggest that acinar cell carcinomas and pancreatoblastomas are similar at the epigenetic level. These findings are consistent with genomic and clinical observations that mixed acinar neoplasms are closely related to pure acinar cell carcinomas rather than to neuroendocrine tumors or ductal adenocarcinomas.
Topics: Carcinoma, Acinar Cell; Epigenesis, Genetic; Humans; Pancreas; Pancreatic Neoplasms
PubMed: 34969956
DOI: 10.1038/s41379-021-00989-2 -
The Indian Journal of Radiology &... Jul 2021We describe the sonography and computed tomography (CT) findings in three children with pancreatoblastoma and highlight the tendency of these tumors to invade the...
We describe the sonography and computed tomography (CT) findings in three children with pancreatoblastoma and highlight the tendency of these tumors to invade the splenoportal axis. All three of our cases showed tumor thrombus within the portal vein which is a helpful diagnostic feature on imaging studies.
PubMed: 34790306
DOI: 10.1055/s-0041-1735914 -
World Journal of Clinical Cases Sep 2021Pancreatic neoplasms are uncommon in children and in most cases they are benign or have low malignant potential. Pancreatoblastoma and solid pseudopapillary tumor are...
BACKGROUND
Pancreatic neoplasms are uncommon in children and in most cases they are benign or have low malignant potential. Pancreatoblastoma and solid pseudopapillary tumor are the most frequent types in early and late childhood, respectively. Complete resection, although burdened by severe complications, is the only curative treatment for these diseases. Pancreatic surgery may result in impaired exocrine and endocrine pancreatic function. However, limited data are available on the long-term pediatric pancreatic function following surgical resection.
AIM
To investigate endocrine and exocrine pancreatic function and growth after oncological pancreatic surgery in a pediatric series.
METHODS
A retrospective analysis of all pediatric patients who underwent surgery for pancreatic neoplasm in our Institution from January 31, 2002 to the present was performed. Endocrine and exocrine insufficiency, auxological and fat-soluble vitamin status (A, D, E and clotting tests) were assessed at diagnosis and at every follow-up visit. Exocrine insufficiency was defined as steatorrhea with fecal elastase-1 < 200 µg/g stool, while endocrine insufficiency was identified as onset of Diabetes or Impaired Glucose Tolerance. Growth was evaluated based on body mass index (BMI) -score trend.
RESULTS
Sixteen patients (12 girls and 4 boys, mean age 10.7 ± 5.3 years), were included. Nine patients (56%) had a neoplasm in the pancreatic head, 4 in the body/tail, 2 in the tail and 1 in the body. Histological findings were as follows: Solid pseudopapillary tumor in 10 patients (62.5%), insulinoma in 2 patients, neuroendocrine tumor in 2 patients and acinar cell carcinoma in 2 patients. The most frequent surgery was pancreaticoduodenectomy (50%). Exocrine failure occurred in 4 patients (25%) and endocrine failure in 2 patients (12.5%). Exocrine insufficiency occurred early (within 6 mo after surgery) and endocrine insufficiency later (8 and 10 years after surgery). Mean BMI -score was 0.36 ± 1.1 at diagnosis and 0.27 ± 0.95 at the last assessment. Vitamin D was insufficient (< 30 ng/mL) in 8 of the 16 patients during the follow-up period. Vitamins A, E and clotting test were into the normal ranges in all patients.
CONCLUSION
Careful and long-term monitoring should follow any pancreatic surgery, to recognize and promptly treat exocrine and endocrine pancreatic insufficiency, which can occur after surgery.
PubMed: 34616800
DOI: 10.12998/wjcc.v9.i25.7340 -
World Journal of Gastroenterology Aug 2021The presence of pancreatic cancer during childhood is extremely rare, and physicians may be tempted to overlook this diagnosis based on age criteria. However, there are... (Review)
Review
The presence of pancreatic cancer during childhood is extremely rare, and physicians may be tempted to overlook this diagnosis based on age criteria. However, there are primary malignant pancreatic tumors encountered in pediatric patients, such as pancreatoblastoma, and tumors considered benign in general but may present a malignant potential, such as the solid pseudo-papillary tumor, insulinoma, gastrinoma, and vasoactive intestinal peptide secreting tumor. Their early diagnosis and management are of paramount importance since the survival rates tend to differ for various types of these conditions. Many pediatric cancers may present pancreatic metastases, such as renal cell carcinoma, which may evolve with pancreatic metastatic disease even after two or more decades. Several childhood diseases may create a predisposition for the development of pancreatic cancer during adulthood; hence, there is a need for extensive screening strategies and complex programs to facilitate the transition from pediatric to adult healthcare. Nevertheless, genetic studies highlight the fact the specific gene mutations and family aggregations may be correlated with a special predisposition towards pancreatic cancer. This review aims to report the main pancreatic cancers diagnosed during childhood, the most important childhood diseases predisposing to the development of pancreatic malignancies, and the gene mutations associates with pancreatic malignant tumors.
Topics: Adult; Child; Humans; Insulinoma; Pancreas; Pancreatic Neoplasms; Survival Rate
PubMed: 34539135
DOI: 10.3748/wjg.v27.i32.5322 -
Frontiers in Oncology 2021Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such...
BACKGROUND
Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such as mutation. However, the molecular abnormalities in adult pancreatoblastoma are not well known.
CASE PRESENTATION
An elderly man, who underwent elective distal pancreatectomy and splenectomy, was referred to our hospital with a mass in the tail of the pancreas. Histologically, the lesion revealed proliferation of clear, basophilic, and cartilaginous tumor cells with lymphatic metastasis. Each of the morphologically distinct tumor components showed different immunohistochemical patterns, indicating heterogeneous differentiation, including epithelial (both acinar and ductal), mesenchymal, and neuroendocrine differentiation. All tumor components showed nuclear expression of β-catenin and cyclin D1. Per next-generation sequencing (NGS), the clear and basophilic tumor cells shared mutations in , , and . Among the mutations, , c.1816_1817insA showed the highest frequency in both cell types, indicating that mutation was a driver mutation of the tumor. A diagnosis of PB was rendered.
SUMMARY
In conclusion, the clear and basophilic cells of the tumor were supposedly derived from the same clone and subsequently acquired additional mutations. This is the first report of clonal evolution in pancreatoblastoma.
PubMed: 34513702
DOI: 10.3389/fonc.2021.725290